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FHIR IG analytics

Packagehl7.fhir.uv.genomics-reporting.r4b
Resource TypeObservation
IdObservation-PolyGenicDiagnosticImpExample.json
FHIR VersionR4B

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Narrative

Note: links and images are rebased to the (stated) source

Generated Narrative: Observation PolyGenicDiagnosticImpExample

Genomic Risk Assessment: Polygenic Risk Score

status: Final

category: Laboratory, Genetics

code: Diagnostic Implication

subject: Adam B. Everyman Male, DoB: 1951-01-20 ( Medical Record Number: m123 (use: usual, ))

effective: 2019-04-01

performer: Organization some lab

derivedFrom:

  • Variant 1 (Identifier: http://hospital.example.org/11)
  • Variant 2 (Identifier: http://hospital.example.org/12)

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic

component

code: Associated phenotype

value: Diabetes mellitus type 2 (disorder)

Source1

{
  "resourceType": "Observation",
  "id": "PolyGenicDiagnosticImpExample",
  "meta": {
    "profile": [
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"
    ]
  },
  "text": {
    "status": "extensions",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment",
      "valueReference": {
        "reference": "RiskAssessment/GenRiskDiabetesT2",
        "display": "Polygenic Risk Score"
      }
    }
  ],
  "status": "final",
  "category": [
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/observation-category",
          "code": "laboratory"
        }
      ]
    },
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code": "GE"
        }
      ]
    }
  ],
  "code": {
    "coding": [
      {
        "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
        "code": "diagnostic-implication"
      }
    ]
  },
  "subject": {
    "reference": "Patient/CGPatientExample01"
  },
  "effectiveDateTime": "2019-04-01",
  "performer": [
    {
      "reference": "Organization/ExampleOrg"
    }
  ],
  "derivedFrom": [
    {
      "identifier": {
        "system": "http://hospital.example.org",
        "value": "11"
      },
      "display": "Variant 1"
    },
    {
      "identifier": {
        "system": "http://hospital.example.org",
        "value": "12"
      },
      "display": "Variant 2"
    }
  ],
  "component": [
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "53037-8"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "LA6668-3",
            "display": "Pathogenic"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "81259-4"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://snomed.info/sct",
            "code": "44054006",
            "display": "Diabetes mellitus type 2 (disorder)"
          }
        ]
      }
    }
  ]
}